GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: TP63EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 15 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Limb hypoplasia-reduction defects gp of SD, green - multiple mutations; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ULT syndrome 103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Hay-Wells syndrome 106260; Limb-mammary syndrome 603543; Orofacial cleft 8 129400; Rapp-Hodgkin syndrome 129400; Split-hand/foot malformation 4 605289
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Rapp-Hodgkin syndrome 129400
- Orofacial cleft 8 129400
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292
- Hay-Wells syndrome 106260
- ULT syndrome 103285
- Split-hand/foot malformation 4 605289
- Limb-mammary syndrome 603543
- OMIM
- 603273
- Clinvar variants
- Variants in TP63
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Primary ovarian insufficiency
- Ectodermal dysplasia
- Clefting
- Limb disorders
- Skeletal dysplasia
- Epidermolysis bullosa and congenital skin fragility
- Intellectual disability
- Amelogenesis imperfecta
- Ectodermal dysplasia without a known gene mutation
- Mosaic skin disorders - deep sequencing
- Peeling skin syndrome
- Fetal anomalies
- DDG2P
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TP63 was added gene: TP63 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TP63 were set to Rapp-Hodgkin syndrome 129400; Orofacial cleft 8 129400; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Hay-Wells syndrome 106260; ULT syndrome 103285; Split-hand/foot malformation 4 605289; Limb-mammary syndrome 603543